Incidental Mutation 'R4949:Vmn1r230'
| ID |
383683 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r230
|
| Ensembl Gene |
ENSMUSG00000045417 |
| Gene Name |
vomeronasal 1 receptor 230 |
| Synonyms |
V1re8 |
| MMRRC Submission |
042546-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R4949 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
21066813-21067763 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 21067625 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 271
(H271Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061330
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053974]
|
| AlphaFold |
Q8R2A2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053974
AA Change: H271Q
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000061330
Gene: ENSMUSG00000045417
AA Change: H271Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
20 |
315 |
2.4e-12 |
PFAM |
|
Pfam:V1R
|
50 |
312 |
7.9e-30 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
T |
C |
5: 35,769,450 (GRCm39) |
V692A |
probably benign |
Het |
| Bcl2l13 |
G |
T |
6: 120,864,191 (GRCm39) |
G382W |
probably damaging |
Het |
| Cdhr5 |
T |
A |
7: 140,852,557 (GRCm39) |
N353I |
probably damaging |
Het |
| Chil4 |
A |
G |
3: 106,113,408 (GRCm39) |
S170P |
possibly damaging |
Het |
| Clp1 |
A |
C |
2: 84,554,086 (GRCm39) |
M361R |
possibly damaging |
Het |
| Cylc2 |
A |
G |
4: 51,229,804 (GRCm39) |
K382R |
unknown |
Het |
| Dsg2 |
T |
A |
18: 20,723,241 (GRCm39) |
D422E |
probably damaging |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Gm14295 |
A |
C |
2: 176,501,469 (GRCm39) |
T320P |
probably damaging |
Het |
| Ido2 |
T |
G |
8: 25,023,970 (GRCm39) |
|
probably null |
Het |
| Ift140 |
T |
A |
17: 25,313,639 (GRCm39) |
S1357T |
probably benign |
Het |
| Insr |
T |
G |
8: 3,235,059 (GRCm39) |
E145A |
probably benign |
Het |
| Itpripl1 |
A |
G |
2: 126,983,327 (GRCm39) |
M265T |
probably benign |
Het |
| Kcnb1 |
G |
T |
2: 166,947,521 (GRCm39) |
N442K |
probably damaging |
Het |
| Kifc5b |
C |
A |
17: 27,144,488 (GRCm39) |
R536S |
probably damaging |
Het |
| Klf6 |
A |
T |
13: 5,914,947 (GRCm39) |
S129C |
probably benign |
Het |
| Lpin2 |
C |
G |
17: 71,538,334 (GRCm39) |
P327A |
probably damaging |
Het |
| Lsm1 |
T |
C |
8: 26,292,065 (GRCm39) |
V114A |
probably benign |
Het |
| Map7d1 |
C |
T |
4: 126,128,846 (GRCm39) |
W218* |
probably null |
Het |
| N4bp2 |
T |
A |
5: 65,979,142 (GRCm39) |
|
probably null |
Het |
| Nt5el |
T |
A |
13: 105,246,214 (GRCm39) |
S258R |
probably damaging |
Het |
| Rheb |
A |
T |
5: 25,008,729 (GRCm39) |
I163K |
possibly damaging |
Het |
| Rph3a |
T |
C |
5: 121,101,897 (GRCm39) |
D113G |
probably damaging |
Het |
| Scn8a |
A |
G |
15: 100,927,663 (GRCm39) |
N1381D |
probably damaging |
Het |
| Sdsl |
T |
A |
5: 120,597,870 (GRCm39) |
N208Y |
possibly damaging |
Het |
| Serpinb9e |
A |
G |
13: 33,435,591 (GRCm39) |
N8S |
possibly damaging |
Het |
| Sox18 |
G |
A |
2: 181,313,017 (GRCm39) |
Q100* |
probably null |
Het |
| Taar8b |
C |
T |
10: 23,967,825 (GRCm39) |
C123Y |
probably damaging |
Het |
| Tas2r124 |
A |
G |
6: 132,731,858 (GRCm39) |
I56V |
possibly damaging |
Het |
| Tes |
C |
A |
6: 17,100,359 (GRCm39) |
H331N |
probably benign |
Het |
| Tmbim1 |
T |
G |
1: 74,334,524 (GRCm39) |
D12A |
probably damaging |
Het |
| Tmprss4 |
T |
C |
9: 45,086,841 (GRCm39) |
I307V |
possibly damaging |
Het |
| Ttll1 |
A |
T |
15: 83,386,374 (GRCm39) |
M77K |
probably null |
Het |
| Ttpal |
G |
A |
2: 163,455,671 (GRCm39) |
R220Q |
probably damaging |
Het |
| Vmn2r32 |
A |
G |
7: 7,467,083 (GRCm39) |
I815T |
probably benign |
Het |
|
| Other mutations in Vmn1r230 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02590:Vmn1r230
|
APN |
17 |
21,067,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03004:Vmn1r230
|
APN |
17 |
21,067,772 (GRCm39) |
unclassified |
probably benign |
|
|
R0306:Vmn1r230
|
UTSW |
17 |
21,066,895 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0318:Vmn1r230
|
UTSW |
17 |
21,067,078 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2076:Vmn1r230
|
UTSW |
17 |
21,067,144 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2151:Vmn1r230
|
UTSW |
17 |
21,067,063 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2153:Vmn1r230
|
UTSW |
17 |
21,067,063 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2154:Vmn1r230
|
UTSW |
17 |
21,067,063 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2192:Vmn1r230
|
UTSW |
17 |
21,067,355 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2215:Vmn1r230
|
UTSW |
17 |
21,067,684 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2309:Vmn1r230
|
UTSW |
17 |
21,067,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4493:Vmn1r230
|
UTSW |
17 |
21,066,863 (GRCm39) |
missense |
probably benign |
|
|
R4683:Vmn1r230
|
UTSW |
17 |
21,067,515 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4804:Vmn1r230
|
UTSW |
17 |
21,067,345 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5138:Vmn1r230
|
UTSW |
17 |
21,067,230 (GRCm39) |
nonsense |
probably null |
|
|
R6248:Vmn1r230
|
UTSW |
17 |
21,067,036 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7329:Vmn1r230
|
UTSW |
17 |
21,066,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7468:Vmn1r230
|
UTSW |
17 |
21,067,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7716:Vmn1r230
|
UTSW |
17 |
21,067,144 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7817:Vmn1r230
|
UTSW |
17 |
21,066,823 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7832:Vmn1r230
|
UTSW |
17 |
21,066,933 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7977:Vmn1r230
|
UTSW |
17 |
21,067,159 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7986:Vmn1r230
|
UTSW |
17 |
21,067,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7987:Vmn1r230
|
UTSW |
17 |
21,067,159 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7993:Vmn1r230
|
UTSW |
17 |
21,067,312 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8439:Vmn1r230
|
UTSW |
17 |
21,066,870 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8971:Vmn1r230
|
UTSW |
17 |
21,067,321 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R9576:Vmn1r230
|
UTSW |
17 |
21,067,163 (GRCm39) |
nonsense |
probably null |
|
|
R9578:Vmn1r230
|
UTSW |
17 |
21,067,163 (GRCm39) |
nonsense |
probably null |
|
|
R9687:Vmn1r230
|
UTSW |
17 |
21,067,604 (GRCm39) |
nonsense |
probably null |
|
|
U24488:Vmn1r230
|
UTSW |
17 |
21,067,014 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Vmn1r230
|
UTSW |
17 |
21,067,214 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTCAGGTAGCTCAGTGATTGTC -3'
(R):5'- CCTGTATAATGTCTTCTCCAAAGCATG -3'
Sequencing Primer
(F):5'- GTCATTCTGTATAGGCACAAACAGC -3'
(R):5'- CTGGACTCTTCAAAAGCATTCAAAG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation